Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.E318_G319del1

PKLR

384 papers

RefSeq Summary

The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in t...

Pfam Domains

PKaa 85–418UCSCPyruvate kinase, barrel domain
PK_Caa 453–571UCSCPyruvate kinase, alpha/beta domain

Gene Aliases

HGNC Name

pyruvate kinase L/R

HGNC Previous Name

pyruvate kinase, liver and RBC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000298.6
p.E318_G319del1
c.953_955delCTT
Surrounding Variants
1 paper
NM_000298.6
p.G319V
c.956G>T
1 paper
NM_000298.6
p.G319G
c.957C>T
1 paper
NM_000298.6
p.V320L
c.958G>T
2 papers
NM_000298.6
p.V320L
c.958G>C
6 papers
NM_000298.6
p.V320M
c.958G>A
1 paper
NM_000298.6
p.V320A
c.959T>C
3 papers
NM_000298.6
p.E318K
c.952G>A
1 paper
NM_000298.6
p.K321N
c.963G>T
1 paper
NM_000298.6
p.K321N
c.963G>C
1 paper
NM_000298.6
p.H317Y
c.949C>T
1 paper
NM_000298.6
p.N316K
c.948C>G
1 paper
NM_000298.6
p.N316K
c.948C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."